Familial platelet disorder with predisposition to acute myelogenous leukemia (FPD/AML)
نویسندگان
چکیده
منابع مشابه
Evidence for genetic homogeneity in a familial platelet disorder with predisposition to acute myelogenous leukemia (FPD/AML)
APC cleavage site. The first one is a new factor V mutation associated with APC resistance (factor V Cambridge, G1091 = C mutation, Arg306 = Thr substitution). This mutation was found in a family with a strong history of thrombosis. Our group has independently described another novel mutation (A1090 = G) that results in Arg306 = Gly substitution but it is, however, not associated with APC resis...
متن کاملFamilial Acute Myelogenous Leukemia: Report of Three Cases
Acute myelogenous leukemia (AML) is a hematological malignancy, which accounts for about 15-25% of childhood's leukemia. Genetic factor is one of the most important predisposing elements in childhood acute leukemia, especially AML. In this case report, a rare presentation of familial AML is presented in three monozygotic triplets. Two were 10 months old, and the other one was 16 months old at p...
متن کاملFamilial platelet disorders with a predisposition to acute myelogenous leukaemia: a RUNX1 update
Background Familial platelet disorder with a predisposition to acute myelogenous leukaemia (FPD-AML, omim#601399) is an autosomal dominant disorder that is linked to mutations within the RUNX1 gene. The RUNX1 gene, present on 21q22.1, plays a role as a regulatory switch in both embryonic and adult haemopoietic development. Heterozygous mutations in RUNX1 are a common feature in FPD-AML with dif...
متن کاملIn vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesis.
Familial platelet disorder with predisposition to acute myelogenous leukemia (FPD/AML) is an autosomal dominant familial platelet disorder characterized by thrombocytopenia and a propensity to develop AML. Mutation analyses of RUNX1 in 3 families with FPD/AML showing linkage to chromosome 21q22.1 revealed 3 novel heterozygous point mutations (K83E, R135fsX177 (IVS4 + 3delA), and Y260X). Functio...
متن کاملDown-regulation of the RUNX1-target gene NR4A3 contributes to hematopoiesis deregulation in familial platelet disorder/acute myelogenous leukemia.
RUNX1 encodes a DNA-binding α subunit of the core-binding factor, a heterodimeric transcription factor. RUNX1 is a master regulatory gene in hematopoiesis and its disruption is one of the most common aberrations in acute leukemia. Inactivating or dominant-negative mutations in the RUNX1 gene have been also identified in pedigrees of familial platelet disorders with a variable propensity to deve...
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ژورنال
عنوان ژورنال: Atlas of Genetics and Cytogenetics in Oncology and Haematology
سال: 2011
ISSN: 1768-3262
DOI: 10.4267/2042/44528